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88 积分 2022-03-03 加入
Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients
1天前
已完结
RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events
2天前
已完结
Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1
6天前
已完结
Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1
6天前
已完结
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study
7天前
已完结
Biallelic Variant in the AGXT Gene in a Family Segregating Primary Hyperoxaluria; Accurate Genetic Diagnosis and Carrier Detection
10天前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
10天前
已完结
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study
12天前
已关闭
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century
13天前
已完结
Copy number variations in SPAST and ATL1 are rare among Brazilians
13天前
已完结
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